Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)

The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.

Also Known As:

Networked: 173 relevant articles (7 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Exanthema (Rash)
2.	Ataxia (Dyssynergia)
3.	Muscle Hypotonia (Hypotonia)
4.	Seizures (Seizure)
5.	Alopecia (Baldness)

Experts

1.	Wolf, Barry: 14 articles (10/2015 - 03/2002)
2.	Wolf, B: 6 articles (07/2014 - 01/2000)
3.	Pindolia, Kirit: 5 articles (10/2015 - 09/2010)
4.	Demirkol, M: 3 articles (01/2005 - 03/2000)
5.	Baumgartner, E Regula: 3 articles (07/2004 - 01/2002)
6.	Suormala, Terttu: 3 articles (12/2003 - 01/2002)
7.	Coşkun, Turgay: 2 articles (08/2015 - 05/2004)
8.	Dursun, Ali: 2 articles (08/2015 - 05/2004)
9.	Cardwell, Cisley: 2 articles (05/2014 - 09/2012)
10.	Mikati, Mohamad A: 2 articles (01/2013 - 11/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Biotinidase Deficiency:

1.	Biotin (Vitamin H)FDA Link 03/04/1994 - "Biotinidase deficiency is an inherited metabolic disorder of biotin recycling that is characterized by neurological and cutaneous abnormalities, and can be successfully treated with biotin supplementation. " 10/01/2015 - "He was ultimately shown to have profound biotinidase deficiency due to a novel missense mutation and was partly improved by oral biotin therapy. " 07/01/2003 - "A follow-up of the case indicated the efficacy, of biotin supplementation in biotinidase deficiency." 12/01/1997 - "Biotinidase deficiency was confirmed biochemically and she responded well to biotin therapy. " 03/01/2015 - "Biotinidase deficiency is an autosomal recessive inborn error of biotin metabolism. "
2.	VitaminsIBA 01/01/1985 - "Biotinidase deficiency: a novel vitamin recycling defect." 05/01/2014 - "Biotinidase deficiency is an autosomal recessively inherited metabolic disorder that can be easily and effectively treated with pharmacological doses of the vitamin, biotin. " 07/01/2014 - "Biotinidase deficiency (BD) is an autosomal recessive disorder resulting in the inability to recycle the vitamin biotin. " 11/01/2013 - "Biotinidase deficiency is an inherited disorder in which the vitamin biotin is not recycled. " 09/01/2010 - "Biotinidase deficiency is an inherited disorder in which the vitamin, biotin, is not recycled. "
3.	BiotinidaseIBA 04/01/2001 - "This study characterises the spectrum of biotinidase mutations in 21 patients (17 families) with profound biotinidase deficiency (BD) and 13 unrelated patients with partial BD using a denaturing gradient gel electrophoretic mutation screening and selective sequencing approach. " 01/01/1990 - "Seventeen partially biotinidase-deficient patients detected by neonatal screening or family studies were compared with four patients with classical biotinidase deficiency. " 03/01/2015 - "To date, more than 100 mutations in the biotinidase gene known to cause biotinidase deficiency have been reported. " 09/01/2014 - "Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase." 07/01/2014 - "Essentially all the mutations result in enzymatic activities with less than 10% of mean normal serum enzyme activity (profound biotinidase deficiency) with the exception of the c.1330G>C (p.D444H) mutation, which results in an enzyme having 50% of mean normal serum activity and causes partial biotinidase deficiency (10-30% of mean normal serum biotinidase activity) if there is a mutation for profound biotinidase deficiency on the second allele. "
4.	biocytinIBA 01/25/2002 - "Neuronal biocytin uptake might contribute to the pathogenesis of biotinidase deficiency where biocytin is present in elevated levels." 01/01/1992 - "In contrast to this patient, two age matched children with partial biotinidase deficiency (2.8% and 2.9% of normal), but with a normal Km for biocytin, remained asymptomatic. " 10/31/1988 - "Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC)." 05/01/1987 - "It has been suggested that biocytin may be present in serum and urine of patients with inherited biotinidase deficiency. " 01/01/1984 - "Detection of biocytin in urine of children with congenital biotinidase deficiency."
5.	Valproic Acid (Valproate, Semisodium)FDA LinkGeneric 10/01/2001 - "Valproic acid (VPA) is an effective antiepileptic drug (AED), which is associated with dose-related adverse reactions such as skin rash, hair loss (alopecia), etc. Profound as well as partial biotinidase deficiency causes dermatologic manifestations similar these. " 09/01/2009 - "Some of the side effects that develop during long-term valproic acid (VPA) treatment are similar to symptoms of zinc and partial biotinidase deficiencies. " 09/01/2006 - "In this study we aimed to put forward the biotinidase deficiency considered as a possible cause of alopecia in the rats administered with valproic acid, and the correlation between liver and serum biotinidase enzyme activities (BEA) and transaminases, albumin and serum valproic acid levels. "
6.	TransaminasesIBA 09/01/2006 - "In this study we aimed to put forward the biotinidase deficiency considered as a possible cause of alopecia in the rats administered with valproic acid, and the correlation between liver and serum biotinidase enzyme activities (BEA) and transaminases, albumin and serum valproic acid levels. "
7.	Adenosine Monophosphate (AMP)IBA 12/05/2008 - "In this study, we show that biotinidase deficiency not only reduces net carboxylase biotinylation, but it also impairs the expression of carboxylases and HCS by interfering with the B-AMP-dependent mechanism of transcription control. "
8.	Late-onset multiple carboxylase deficiencyIBA 01/01/1998 - "[Biotinidase deficiency (late-onset multiple carboxylase deficiency)]." 03/01/1992 - "Late-onset multiple carboxylase deficiency depends on biotinidase deficiency and is inherited as an autosomal recessive trait. " 08/01/1986 - "The diagnosis of late onset multiple carboxylase deficiency due to biotinidase deficiency was confirmed. " 08/01/1986 - "Biotinidase deficiency is the most common cause of late onset, biotin-responsive multiple carboxylase deficiency (MCD). " 11/01/1985 - "Biotinidase deficiency is the primary defect in most individuals with late-onset multiple carboxylase deficiency. "
9.	LigasesIBA 10/01/1994 - "The first is holocarboxylase synthetase (HCS) deficiency and the second biotinidase deficiency. " 01/01/1991 - "There are two types of multiple carboxylase deficiency, the neonatal form with holocarboxylase synthetase defect and the late-onset form with biotinidase deficiency. " 01/01/2013 - "Two inherited defects in biotin metabolism are known, holocarboxylase synthetase and biotinidase deficiency. " 10/01/1998 - "Some of these women might be carriers of an inborn error of biotin metabolism (either biotinidase deficiency or holocarboxylase synthetase activity). " 01/01/2015 - "In multiple carboxylase deficiency (MCD), the biotin-dependent carboxylases have decreased activity due to either biotinidase deficiency or holocarboxylase synthetase (HS) deficiency. "
10.	DNA (Deoxyribonucleic Acid)IBA 02/01/2003 - "Employing DNA extracted from the original dried blood specimens from newborns identified through prospective newborn screening as presumptive positive for biotinidase deficiency, the specimens were analyzed for the presence of the five common mutations. " 08/01/2002 - "Mutation analysis performed on DNA from 6 Italian patients with partial biotinidase deficiency ascertained by newborn screening allowed the identification of two new mutations, c1211C > T (T404I) and a single base deletion c594delC. " 03/01/2000 - "Mutation analysis was performed on DNA from 31 Turkish children with profound biotinidase deficiency who were symptomatic or ascertained by newborn screening. " 08/01/2015 - "To expand upon the information about the biotinidase gene (BTD) variations in Turkish patients, we conducted a mutation screening in a large series (n = 210) of probands with biotinidase deficiency, using denaturing high-performance liquid chromatography and direct DNA sequencing. " 03/01/2004 - "Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. "

Therapies and Procedures

1.	Erythrocyte Transfusion 02/01/2000 - "Erythrocyte transfusion can impair detection of sickle-cell disease, galactosemia, or biotinidase deficiency with newborn screening. "
2.	Anesthesia 01/01/2014 - "Management of anesthesia in biotinidase deficiency."
3.	Aftercare (After-Treatment) 01/01/1993 - "Cerebral metabolic change after treatment in biotinidase deficiency."
4.	Oral Administration 12/01/2009 - "Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms, treated by oral administration of the vitamin biotin. "